| 基因名 | 突变 |
|---|---|
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89921057A>G,c.889A>G,p.M297V |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89920932G>A,c.764G>A,p.R255H |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89917015G>A,c.592G>A,p.V198M |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89916953C>A,c.530C>A,p.A177E |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89916879_89916880insGAG,c.456_457insGAG,p.152_153ins1aa |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89911747G>A,c.262G>A,p.V88M |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89911741A>G,c.256A>G,p.M86V |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89895113G>T,c.155G>T,p.R52L |
| SPIRE1(NM_001128626,spire-type actin nucleation factor 1,756aa) | g.18:12546708T>G,c.568A>C,p.I190L |
| SPIRE1(NM_001128626,spire-type actin nucleation factor 1,756aa) | g.18:12479858G>C,c.1244C>G,p.P415R |
| SPIRE1(NM_001128626,spire-type actin nucleation factor 1,756aa) | g.18:12464876T>A,c.1486A>T,p.T496S |
| SPIRE1(NM_001128626,spire-type actin nucleation factor 1,756aa) | g.18:12449696T>C,c.2212A>G,p.M738V |
| SPINT4(NM_178455,serine peptidase inhibitor, Kunitz type 4,99aa) | g.20:44352696C>T,c.293C>T,p.P98L |
| SPINT4(NM_178455,serine peptidase inhibitor, Kunitz type 4,99aa) | g.20:44352620G>A,c.217G>A,p.G73S |
| SPINT4(NM_178455,serine peptidase inhibitor, Kunitz type 4,99aa) | g.20:44352534A>G,c.131A>G,p.D44G |
| SPINT4(NM_178455,serine peptidase inhibitor, Kunitz type 4,99aa) | g.20:44352519A>T,c.116A>T,p.D39V |
| SPINT4(NM_178455,serine peptidase inhibitor, Kunitz type 4,99aa) | g.20:44351095C>A,c.89C>A,p.A30E |
| SPINT3(NM_006652,serine peptidase inhibitor, Kunitz type, 3,89aa) | g.20:44144247A>G,c.2T>C,p.M1T |
| SPINT3(NM_006652,serine peptidase inhibitor, Kunitz type, 3,89aa) | g.20:44141434C>T,c.127G>A,p.G43S |
| SPINT3(NM_006652,serine peptidase inhibitor, Kunitz type, 3,89aa) | g.20:44141400A>G,c.161T>C,p.F54S |
| SPINT3(NM_006652,serine peptidase inhibitor, Kunitz type, 3,89aa) | g.20:44141331A>G,c.230T>C,p.L77S |
| SPINT2(NM_021102,serine peptidase inhibitor, Kunitz type, 2,252aa) | g.19:38782602G>A,c.715G>A,p.G239R |
| SPINT2(NM_021102,serine peptidase inhibitor, Kunitz type, 2,252aa) | g.19:38782485G>C,c.598G>C,p.V200L |
| SPINT2(NM_021102,serine peptidase inhibitor, Kunitz type, 2,252aa) | g.19:38778569C>T,c.331C>T,p.P111S |
| SPINT2(NM_021102,serine peptidase inhibitor, Kunitz type, 2,252aa) | g.19:38778525C>T,c.287C>T,p.T96M |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41148988G>A,c.1405G>A,p.A469T |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41148516G>A,c.1379G>A,p.S460N |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41148498G>A,c.1361G>A,p.R454Q |